Redefining macular disease diagnosis to improve access to emerging therapies
Rare inherited macular dystrophies, where macular cells die prematurely, can be misdiagnosed as the far more common age-related macular degeneration (AMD). Historically, a misdiagnosis wasn’t too problematic, as there were no treatments for either late-stage AMD or rare macular dystrophies. However, different treatments, such as gene therapy, are now being developed for both. Therefore, it is important that everyone with macular disease can be diagnosed quickly and accurately so they can receive the right treatment for their condition once these treatments are available. Further, there is currently no information for clinicians on what specific criteria they can use to differentiate rare macular dystrophies from AMD. This project aims to investigate the prevalence of macular dystrophies in people with macular disease with unusual clinical features. We will use genetic sequencing to find out how many people actually have a rare macular dystrophy and compare eye images to investigate what specific characteristics can be used to differentiate between different macular diseases. Findings will help us develop a specific set of criteria that clinicians can use to improve the diagnosis of macular diseases and ensure that every patient will receive the right treatment for their condition in the future.
Private: 2023 Research Grant Family Fund recipient
A stem-cell derived model of geographic atrophy age-related macular degeneration for mitochondrial-focused drug screening It is now consensus
